Abstract
BackgroundRare diseases are, by definition, very serious and chronic diseases with a high negative impact on quality of life. Approximately 350 million people worldwide live with rare diseases. The resulting high disease burden triggers health information search, but helpful, high-quality, and up-to-date information is often hard to find. Therefore, the improvement of health information provision has been integrated in many national plans for rare diseases, discussing the telephone as one access option. In this context, this study examines the need for a telephone service offering information for people affected by rare diseases, their relatives, and physicians.MethodsIn total, 107 individuals participated in a qualitative interview study conducted in Germany. Sixty-eight individuals suffering from a rare disease or related to somebody with rare diseases and 39 health care professionals took part. Individual interviews were conducted using a standardized semi-structured questionnaire. Interviews were analysed using the qualitative content analysis, triangulating patients, relatives, and health care professionals. The fulfilment of qualitative data processing standards has been controlled for.ResultsOut of 68 patients and relatives and 39 physicians, 52 and 18, respectively, advocated for the establishment of a rare diseases telephone service. Interviewees expected a helpline to include expert staffing, personal contact, good availability, low technical barriers, medical and psychosocial topics of counselling, guidance in reducing information chaos, and referrals. Health care professionals highlighted the importance of medical topics of counselling—in particular, differential diagnostics—and referrals.ConclusionsTherefore, the need for a national rare diseases helpline was confirmed in this study. Due to limited financial resources, existing offers should be adapted in a stepwise procedure in accordance with the identified attributes.
Highlights
IntroductionBy definition, very serious and chronic diseases with a high negative impact on quality of life
Rare diseases are, by definition, very serious and chronic diseases with a high negative impact on quality of life
The presented literature suggests that there are differences in themes, staffing and structuring of helplines, which should be thoroughly thought of. Encouraged by these findings, we further investigated potentials of Rare Diseases (RD) helplines, resulting from the gap between information offering and need, to further improve healthseeking processes of people affected by RD
Summary
By definition, very serious and chronic diseases with a high negative impact on quality of life. The improvement of health information provision has been integrated in many national plans for rare diseases, discussing the telephone as one access option. In this context, this study examines the need for a telephone service offering information for people affected by rare diseases, their relatives, and physicians. Rare diseases (RDs) are predominantly very serious and chronic diseases as approximately 80% are genetic in origin They often have a negative impact on the life expectancy and quality of life of those affected. Treatments, which, when available, are very expensive These hurdles trigger an odyssey through health service systems and, in this context, the search for helpful health information. Useful, Babac et al BMC Health Services Research (2018) 18:99 high-quality, and up-to-date information is often hard to find [2]
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